Incidental Mutation 'R6350:N4bp1'
ID 514155
Institutional Source Beutler Lab
Gene Symbol N4bp1
Ensembl Gene ENSMUSG00000031652
Gene Name NEDD4 binding protein 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6350 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 87567764-87612489 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87588596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 114 (D114G)
Ref Sequence ENSEMBL: ENSMUSP00000034074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034074]
AlphaFold Q6A037
Predicted Effect probably damaging
Transcript: ENSMUST00000034074
AA Change: D114G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034074
Gene: ENSMUSG00000031652
AA Change: D114G

DomainStartEndE-ValueType
low complexity region 29 43 N/A INTRINSIC
low complexity region 375 390 N/A INTRINSIC
low complexity region 548 571 N/A INTRINSIC
Pfam:RNase_Zc3h12a 614 767 4.7e-59 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,947,764 (GRCm39) K554E possibly damaging Het
Acsf2 T C 11: 94,449,156 (GRCm39) M609V probably benign Het
Acsm3 A G 7: 119,367,256 (GRCm39) T30A probably benign Het
Adam32 T C 8: 25,353,445 (GRCm39) K715E possibly damaging Het
Cdk5r1 T C 11: 80,369,068 (GRCm39) L245P probably damaging Het
Cntn3 A G 6: 102,147,579 (GRCm39) V926A probably damaging Het
Csf2rb G A 15: 78,229,752 (GRCm39) D440N probably damaging Het
D3Ertd751e T A 3: 41,708,278 (GRCm39) H138Q probably damaging Het
D630003M21Rik A G 2: 158,062,415 (GRCm39) L35P probably damaging Het
Faap100 A T 11: 120,265,406 (GRCm39) V490E probably damaging Het
Il3ra A G 14: 14,348,903 (GRCm38) D99G probably benign Het
Kcnmb1 A G 11: 33,914,711 (GRCm39) K4R probably damaging Het
Larp1 T A 11: 57,940,657 (GRCm39) D594E probably benign Het
Lnpep G T 17: 17,783,071 (GRCm39) H577N probably benign Het
Mief1 T C 15: 80,133,804 (GRCm39) I287T probably damaging Het
Mras T C 9: 99,293,560 (GRCm39) S27G probably damaging Het
Myh7b T A 2: 155,470,680 (GRCm39) C1043S probably benign Het
Nsmce4a A T 7: 130,140,829 (GRCm39) I219K probably damaging Het
Nynrin A T 14: 56,105,533 (GRCm39) I848F probably benign Het
Or2p2 T C 13: 21,256,775 (GRCm39) E232G probably benign Het
Or4f62 T A 2: 111,986,542 (GRCm39) I82N probably damaging Het
Patj T A 4: 98,293,855 (GRCm39) S36T probably benign Het
Pcdhb15 G A 18: 37,608,414 (GRCm39) V549M probably damaging Het
Prl2c5 T C 13: 13,357,631 (GRCm39) probably null Het
Ptbp3 A T 4: 59,482,624 (GRCm39) D386E probably damaging Het
Ptpra T C 2: 130,382,512 (GRCm39) L451P probably damaging Het
Repin1 A G 6: 48,574,562 (GRCm39) D497G probably damaging Het
Ryr2 A G 13: 11,776,282 (GRCm39) F1085S probably damaging Het
Slc6a18 G A 13: 73,826,044 (GRCm39) A2V possibly damaging Het
Wee2 C T 6: 40,432,039 (GRCm39) R203C probably damaging Het
Zmynd15 T C 11: 70,355,257 (GRCm39) V388A probably damaging Het
Other mutations in N4bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00653:N4bp1 APN 8 87,588,354 (GRCm39) missense probably benign 0.01
IGL00659:N4bp1 APN 8 87,588,430 (GRCm39) missense probably damaging 1.00
IGL01484:N4bp1 APN 8 87,571,400 (GRCm39) missense probably damaging 0.99
IGL01788:N4bp1 APN 8 87,587,624 (GRCm39) missense probably benign 0.06
IGL01989:N4bp1 APN 8 87,575,115 (GRCm39) missense probably damaging 1.00
IGL02619:N4bp1 APN 8 87,587,529 (GRCm39) missense probably benign 0.01
IGL03290:N4bp1 APN 8 87,575,161 (GRCm39) missense probably benign 0.31
Acorn UTSW 8 87,588,534 (GRCm39) nonsense probably null
oak UTSW 8 87,588,424 (GRCm39) nonsense probably null
Squirrel UTSW 8 87,578,337 (GRCm39) missense probably damaging 1.00
Stash UTSW 8 87,587,052 (GRCm39) critical splice donor site probably null
walnut UTSW 8 87,573,540 (GRCm39) missense probably damaging 1.00
winter UTSW 8 87,588,311 (GRCm39) missense probably benign
R0760:N4bp1 UTSW 8 87,573,540 (GRCm39) missense probably damaging 1.00
R1202:N4bp1 UTSW 8 87,571,515 (GRCm39) missense probably benign 0.02
R1653:N4bp1 UTSW 8 87,571,576 (GRCm39) missense probably benign 0.10
R1878:N4bp1 UTSW 8 87,588,169 (GRCm39) missense probably damaging 0.98
R2325:N4bp1 UTSW 8 87,575,088 (GRCm39) missense probably damaging 1.00
R2442:N4bp1 UTSW 8 87,588,668 (GRCm39) missense probably damaging 1.00
R2867:N4bp1 UTSW 8 87,588,033 (GRCm39) missense probably benign 0.02
R2867:N4bp1 UTSW 8 87,588,033 (GRCm39) missense probably benign 0.02
R2926:N4bp1 UTSW 8 87,588,424 (GRCm39) nonsense probably null
R3625:N4bp1 UTSW 8 87,578,337 (GRCm39) missense probably damaging 1.00
R3689:N4bp1 UTSW 8 87,587,184 (GRCm39) missense probably damaging 1.00
R3863:N4bp1 UTSW 8 87,587,055 (GRCm39) missense probably benign 0.13
R4872:N4bp1 UTSW 8 87,587,676 (GRCm39) missense probably benign 0.01
R4902:N4bp1 UTSW 8 87,588,311 (GRCm39) missense probably benign
R4965:N4bp1 UTSW 8 87,578,314 (GRCm39) missense possibly damaging 0.69
R5070:N4bp1 UTSW 8 87,587,165 (GRCm39) missense probably damaging 0.98
R5392:N4bp1 UTSW 8 87,587,048 (GRCm39) splice site probably null
R5719:N4bp1 UTSW 8 87,578,312 (GRCm39) missense probably damaging 1.00
R6280:N4bp1 UTSW 8 87,579,794 (GRCm39) missense possibly damaging 0.68
R6292:N4bp1 UTSW 8 87,579,867 (GRCm39) missense probably damaging 0.99
R6543:N4bp1 UTSW 8 87,588,534 (GRCm39) nonsense probably null
R6965:N4bp1 UTSW 8 87,571,461 (GRCm39) missense probably damaging 1.00
R7120:N4bp1 UTSW 8 87,587,495 (GRCm39) missense probably benign 0.01
R7172:N4bp1 UTSW 8 87,587,052 (GRCm39) critical splice donor site probably null
R7791:N4bp1 UTSW 8 87,579,831 (GRCm39) missense probably damaging 0.99
R8084:N4bp1 UTSW 8 87,587,636 (GRCm39) missense probably benign 0.28
R8220:N4bp1 UTSW 8 87,571,315 (GRCm39) makesense probably null
R8523:N4bp1 UTSW 8 87,579,789 (GRCm39) missense probably damaging 1.00
R8753:N4bp1 UTSW 8 87,575,085 (GRCm39) missense probably damaging 1.00
R9445:N4bp1 UTSW 8 87,587,238 (GRCm39) nonsense probably null
R9464:N4bp1 UTSW 8 87,587,165 (GRCm39) missense probably damaging 0.98
X0067:N4bp1 UTSW 8 87,588,548 (GRCm39) missense probably damaging 1.00
Z1177:N4bp1 UTSW 8 87,579,787 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTCTTCAAGGAAGTAGGCAGAATC -3'
(R):5'- ACAGTCATGTCCTGGGGAAC -3'

Sequencing Primer
(F):5'- ACAGGTCCATTGTATAACTGTCTGC -3'
(R):5'- GGGAACTGGTGAATTGGTCTAAC -3'
Posted On 2018-04-27